Department of Public Health Genetics, Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052, Australia.
Genet Med. 2011 Jul;13(7):632-42. doi: 10.1097/GIM.0b013e3182136d19.
There is considerable information regarding the medical and cognitive aspects of Klinefelter syndrome yet little research regarding its psychosocial impact. This study investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes.
Men from across Australia, diagnosed with KS at different ages, were recruited through multiple sources. Participants completed a questionnaire assessing subjective well-being, body image, self-esteem, mental health, social support, and general health.
Eighty-seven individuals self-completed the questionnaire. All outcomes were much poorer for the study population than for the general male population. Individuals diagnosed later in life reported many of the same symptoms as those diagnosed at younger ages. Employment status, social support, and phenotypic features were the strongest predictors of psychosocial outcomes. Age at diagnosis was not as influential because it did not correlate with phenotypic severity score.
This is the first quantitative study to show Klinefelter syndrome has a significant personal impact. Men diagnosed with Klinefelter syndrome later in life reported similar difficulties as those at younger ages, suggesting that they would benefit from early detection and intervention. Understanding factors influencing this can assist in providing adequate services to individuals with Klinefelter syndrome, their partners, families, and the health professionals caring for them.
关于克莱恩费尔特综合征的医学和认知方面有相当多的信息，但关于其心理社会影响的研究却很少。本研究调查了克莱恩费尔特综合征对个人的影响，以及诊断年龄、临床、社会和人口统计学因素对成年生活质量结果的影响。
通过多种途径招募了来自澳大利亚各地的、在不同年龄段被诊断为克莱恩费尔特综合征的男性。参与者完成了一份问卷，评估主观幸福感、身体形象、自尊、心理健康、社会支持和一般健康状况。
87 名个体自行完成了问卷。所有结果都明显比一般男性人群差。在较晚的年龄被诊断的个体报告了与在较早年龄被诊断的个体相同的许多症状。就业状况、社会支持和表型特征是心理社会结果的最强预测因素。诊断年龄的影响不大，因为它与表型严重程度评分没有相关性。
这是第一项定量研究，表明克莱恩费尔特综合征对个人有重大影响。较晚被诊断为克莱恩费尔特综合征的男性与较年轻的男性报告了类似的困难，这表明他们将受益于早期发现和干预。了解影响这些因素可以帮助为克莱恩费尔特综合征患者、他们的伴侣、家人以及照顾他们的卫生专业人员提供适当的服务。
